734017008: Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\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\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3481868014 Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3481869018 Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3481870017 A rare multiple developmental anomalies syndrome with characteristics of the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate as well as cryptorchidism, feeding difficulties and hypotonia is associated. There have been no further descriptions in the literature since 1998. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

964251000172116 syndrome de dysplasie ectodermique-déficience intellectuelle-malformation du système nerveux central fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

997341000172117 ectodermale dysplasie, intellectuele achterstand, misvorming van centraal zenuwstelsel 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
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Finding site	Ectoderm structure	false	Inferred relationship	Some	4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	5
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

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Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3481868014	Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481869018	Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3481870017	A rare multiple developmental anomalies syndrome with characteristics of the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate as well as cryptorchidism, feeding difficulties and hypotonia is associated. There have been no further descriptions in the literature since 1998.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
964251000172116	syndrome de dysplasie ectodermique-déficience intellectuelle-malformation du système nerveux central	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
997341000172117	ectodermale dysplasie, intellectuele achterstand, misvorming van centraal zenuwstelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)