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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Microcephaly with deafness and intellectual disability syndrome

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly with deafness and intellectual disability syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly with deafness and intellectual disability syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome

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

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

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly with deafness and intellectual disability syndrome

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3304776017 Microcephaly with deafness and intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3304777014 Kawashima Tsuji syndrome en Synonym Active Case sensitive SNOMED CT core

3304778016 This syndrome has manifestations of 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304775018	Microcephaly with deafness and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304776017	Microcephaly with deafness and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304777014	Kawashima Tsuji syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304778016	This syndrome has manifestations of 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	Case sensitive	SNOMED CT core