770907002: Kagami Ogata syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Kagami Ogata syndrome

\Finding of head and neck region\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\Kagami Ogata syndrome

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kagami Ogata syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kagami Ogata syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Kagami Ogata syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Kagami Ogata syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Kagami Ogata syndrome

\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kagami Ogata syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kagami Ogata syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kagami Ogata syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kagami Ogata syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Kagami Ogata syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Kagami Ogata syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Kagami Ogata syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3703367014 Kagami Ogata syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3703368016 Kagami Ogata syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3703369012 Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3703370013 A rare genetic disease with characteristics of polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, and muscular hypotonia. There is increased risk of hepatoblastoma. The syndrome is an imprinting disorder involving genes within the imprinted region of chromosome 14q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

14003651000172116 KOS - Kagami Ogata syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

14003661000172119 syndrome de Kagami Ogata fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5007991000172117 syndroom van Kagami-Ogata nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5008001000172112 Kagami-Ogata-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kagami Ogata syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Kagami Ogata syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Kagami Ogata syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Kagami Ogata syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Kagami Ogata syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Kagami Ogata syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Kagami Ogata syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Kagami Ogata syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Kagami Ogata syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Kagami Ogata syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3703367014	Kagami Ogata syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703368016	Kagami Ogata syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703369012	Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703370013	A rare genetic disease with characteristics of polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, and muscular hypotonia. There is increased risk of hepatoblastoma. The syndrome is an imprinting disorder involving genes within the imprinted region of chromosome 14q32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14003651000172116	KOS - Kagami Ogata syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
14003661000172119	syndrome de Kagami Ogata	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5007991000172117	syndroom van Kagami-Ogata	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5008001000172112	Kagami-Ogata-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)