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

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Male emopamil-binding protein disorder with neurological defect
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Male emopamil-binding protein disorder with neurological defect
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Male emopamil-binding protein disorder with neurological defect
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
• \Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Male emopamil-binding protein disorder with neurological defect
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
• \Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid metabolism\Male emopamil-binding protein disorder with neurological defect
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\Inherited metabolic disorder of nervous system\Male emopamil-binding protein disorder with neurological defect
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Male emopamil-binding protein disorder with neurological defect
• \Disease\trouble du développement\Developmental hereditary disorder\Male emopamil-binding protein disorder with neurological defect
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Male emopamil-binding protein disorder with neurological defect
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Male emopamil-binding protein disorder with neurological defect
• \Disease\trouble du développement\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

Expanded Value Set

This concept is not in any reference sets

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