716112005: Microcephaly with deafness and intellectual disability syndrome (disorder)

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

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Microcephaly with deafness and intellectual disability syndrome (disorder)

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Microcephaly with deafness and intellectual disability syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microcephaly with deafness and intellectual disability syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304775018 Microcephaly with deafness and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304776017 Microcephaly with deafness and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304777014 Kawashima Tsuji syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401236013 Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401237016 Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Microcephalus	false	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Hearing loss	true	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	4
Microcephaly with deafness and intellectual disability syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Microcephaly with deafness and intellectual disability syndrome (disorder)	Interprets	Functional observable	false	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	5
Microcephaly with deafness and intellectual disability syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	5
Microcephaly with deafness and intellectual disability syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Microcephaly with deafness and intellectual disability syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Microcephaly with deafness and intellectual disability syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	6
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Microcephaly with deafness and intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephaly with deafness and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Microcephaly with deafness and intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephaly with deafness and intellectual disability syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Microcephaly with deafness and intellectual disability syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Microcephaly with deafness and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	5
Microcephaly with deafness and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Microcephaly with deafness and intellectual disability syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Microcephaly with deafness and intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
Microcephaly with deafness and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Microcephaly with deafness and intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
Microcephaly with deafness and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	7
Microcephaly with deafness and intellectual disability syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304775018	Microcephaly with deafness and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304776017	Microcephaly with deafness and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304777014	Kawashima Tsuji syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401236013	Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401237016	Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core