778006008: Autosomal dominant aplasia and myelodysplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Clinical history and observation findings\Functional finding\Hearing finding (finding)\Hearing disorder\...

\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)

\Hearing loss\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Hearing loss\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)

\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Finding of body region\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Finding by site\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Congenital disease\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3736387018	Autosomal dominant aplasia and myelodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3736388011	Autosomal dominant aplasia and myelodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3736389015	Autosomal dominant aplastic anaemia and myelodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3736390012	Autosomal dominant aplastic anemia and myelodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	US English: Acceptable (foundation metadata concept)
3736391011	A rare genetic haematologic disorder characterised by bone marrow failure which manifests with aplastic anaemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3736392016	A rare genetic hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	US English: Preferred (foundation metadata concept)
4208551000052110	autosomalt dominant aplasi och myelodysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant aplasia and myelodysplasia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal dominant aplasia and myelodysplasia (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Autosomal dominant aplasia and myelodysplasia (disorder)	Finding site	Bone marrow structure	true	Inferred relationship	Some	1
Autosomal dominant aplasia and myelodysplasia (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal dominant aplasia and myelodysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant aplasia and myelodysplasia (disorder)	Is a	Bone marrow disorder	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia (disorder)	Is a	Congenital deafness	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia (disorder)	Finding site	Inner ear structure (body structure)	true	Inferred relationship	Some	2
Autosomal dominant aplasia and myelodysplasia (disorder)	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia (disorder)	Is a	Congenital anomaly of inner ear	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Autosomal dominant aplasia and myelodysplasia (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets