782739000: Male emopamil-binding protein disorder with neurological defect (disorder)

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

\Finding by site\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Finding of body region\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Finding of body region\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Finding by site\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Finding by site\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Disorder by body site (disorder)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Finding by site\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Male emopamil-binding protein disorder with neurological defect
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder by body site (disorder)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Disease\Metabolic disease\Inborn error of metabolism\Male emopamil-binding protein disorder with neurological defect
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Male emopamil-binding protein disorder with neurological defect
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Male emopamil-binding protein disorder with neurological defect
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Disease\Congenital disease\Inborn error of metabolism\Male emopamil-binding protein disorder with neurological defect
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Male emopamil-binding protein disorder with neurological defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3755551013	Male emopamil-binding protein disorder with neurological defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3755552018	Male EBP (emopamil-binding protein) disorder with neurological defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3755553011	Male emopamil-binding protein disorder with neurological defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3755660013	MEND (male emopamil-binding protein disorder with neurological defect) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3755444019	A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11.	en	Definition	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
Male emopamil-binding protein disorder with neurological defect	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	Disorder of lipid metabolism	true	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Occurrence	Congenital	true	Inferred relationship	Some	1
Male emopamil-binding protein disorder with neurological defect	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Male emopamil-binding protein disorder with neurological defect	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Male emopamil-binding protein disorder with neurological defect	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Male emopamil-binding protein disorder with neurological defect	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Male emopamil-binding protein disorder with neurological defect	Occurrence	Congenital	true	Inferred relationship	Some	2
Male emopamil-binding protein disorder with neurological defect	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Male emopamil-binding protein disorder with neurological defect	Finding site	Skin structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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