1228844002: 1p35.2 microdeletion syndrome (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\1p35.2 microdeletion syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\1p35.2 microdeletion 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\1p35.2 microdeletion syndrome

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\1p35.2 microdeletion syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\1p35.2 microdeletion syndrome

\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\1p35.2 microdeletion syndrome
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\1p35.2 microdeletion syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\1p35.2 microdeletion syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\1p35.2 microdeletion syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\1p35.2 microdeletion 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\1p35.2 microdeletion syndrome
\Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\1p35.2 microdeletion syndrome
\Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\1p35.2 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\1p35.2 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\1p35.2 microdeletion syndrome
\Disease\Developmental disorder\Developmental delay\1p35.2 microdeletion syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\1p35.2 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
1p35.2 microdeletion syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
1p35.2 microdeletion syndrome	Is a	Developmental delay	true	Inferred relationship	Some
1p35.2 microdeletion syndrome	Is a	1p partial monosomy	true	Inferred relationship	Some
1p35.2 microdeletion syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
1p35.2 microdeletion syndrome	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	4
1p35.2 microdeletion syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
1p35.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
1p35.2 microdeletion syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
1p35.2 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
1p35.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
1p35.2 microdeletion syndrome	Finding site	Chromosome pair 1	true	Inferred relationship	Some	2
1p35.2 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
1p35.2 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
1p35.2 microdeletion syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
1p35.2 microdeletion syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
1p35.2 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5063406016	1p35.2 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5063407013	1p35.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5063409011	Monosomy 1p35.2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5063408015	A very rare chromosomal anomaly with characteristics of intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long myopathic facies, fine eyebrows, small mouth and micrognathia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13743051000172115	1p35.2-microdeletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13743061000172118	syndroom van 1p35.2-microdeletie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13743071000172110	microdeletie van chromosoom 1p35.2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13743081000172113	monosomie 1p35.2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)