57917004: Seckel syndrome (disorder)

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

\Clinical history and observation findings\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Seckel syndrome

\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Seckel syndrome
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Microcephalus\Seckel syndrome
\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 anomaly of brain\Seckel syndrome
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Seckel syndrome
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Microcephalus\Seckel syndrome
\Finding by site\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Seckel syndrome
\Finding by site\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Microcephalus\Seckel syndrome
\Finding by site\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Seckel syndrome
\Finding by site\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Seckel syndrome
\Finding by site\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Microcephalus\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Microcephalus\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Seckel syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of brain (disorder)\Microcephalus\Seckel syndrome
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Seckel syndrome
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Seckel syndrome
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Seckel syndrome
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Seckel syndrome
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Seckel syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Microcephalus\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Seckel syndrome
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of brain (disorder)\Microcephalus\Seckel syndrome
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Seckel syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Seckel syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Seckel syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Seckel syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Seckel syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Seckel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Seckel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Seckel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Seckel syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
96285014	Seckel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
96286010	Bird-headed dwarf of Seckel	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
96287018	Nanocephalic dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
96288011	Bird-headed dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
796592012	Seckel syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Seckel syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Seckel syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Seckel syndrome	Is a	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	false	Inferred relationship	Some
Seckel syndrome	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Seckel syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Seckel syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Seckel syndrome	Is a	Primordial dwarfism	true	Inferred relationship	Some
Seckel syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Seckel syndrome	Is a	Microcephalus	true	Inferred relationship	Some
Seckel syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
Seckel syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Seckel syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Seckel syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Seckel syndrome	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Seckel syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Seckel syndrome	Finding site	Head structure	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Seckel syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Seckel syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Seckel syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Seckel syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Seckel syndrome	Finding site	Head structure	false	Inferred relationship	Some	2
Seckel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Seckel syndrome	Finding site	Brain structure	true	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Seckel syndrome	Finding site	Brain structure	false	Inferred relationship	Some	3
Seckel syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Seckel syndrome	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	3
Seckel syndrome	Finding site	Head structure	false	Inferred relationship	Some	3
Seckel syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Seckel syndrome	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	4
Seckel syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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