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

SNOMED CT Concept\Clinical finding\...

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

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome

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

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

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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3481869018 Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Finding site	Skin structure	true	Inferred relationship	Some	3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Finding site	Structure of central nervous system	false	Inferred relationship	Some	5
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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	Case insensitive	SNOMED CT core
3481869018	Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core