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

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
\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
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\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 metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic 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\Developmental hereditary disorder\Male emopamil-binding protein disorder with neurological defect
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
\Disease\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 of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\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 (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Male emopamil-binding protein disorder with neurological defect
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
\Disease\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\Developmental disorder\Developmental hereditary disorder\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

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

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

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

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

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

14016181000172114 syndrome MEND (male emopamil-binding protein disorder with neurological defect) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14016191000172112 trouble neurologique masculin lié à EBP (emopamil-binding protein) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14016201000172110 trouble neurologique lié à la protéine de liaison de l'émopamil chez l'homme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4863961000172110 mannelijke aandoening van 'emopamil-binding protein' met neurologisch functieverlies nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4863971000172118 aandoening van emopanilbindend proteïne met neurologisch defect bij man nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core 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	false	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	false	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	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	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
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	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	Is a	X-linked hereditary disease	false	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	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Male emopamil-binding protein disorder with neurological defect	Finding site	Skin structure	true	Inferred relationship	Some	2
Male emopamil-binding protein disorder with neurological defect	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Male emopamil-binding protein disorder with neurological defect	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
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
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
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
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
14016181000172114	syndrome MEND (male emopamil-binding protein disorder with neurological defect)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14016191000172112	trouble neurologique masculin lié à EBP (emopamil-binding protein)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14016201000172110	trouble neurologique lié à la protéine de liaison de l'émopamil chez l'homme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4863961000172110	mannelijke aandoening van 'emopamil-binding protein' met neurologisch functieverlies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4863971000172118	aandoening van emopanilbindend proteïne met neurologisch defect bij man	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)