1251452003: 4q25 proximal deletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\4q25 proximal deletion syndrome

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\4q25 proximal deletion syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\4q25 proximal deletion syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\4q25 proximal deletion syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\4q25 proximal deletion syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\4q25 proximal deletion syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\4q25 proximal deletion syndrome

\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4\4q25 proximal deletion syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Deletion of part of chromosome 4\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4\4q25 proximal deletion syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\4q25 proximal deletion syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4\4q25 proximal deletion syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Deletion of part of chromosome 4\4q partial monosomy syndrome\Proximal deletion of long arm of chromosome 4\4q25 proximal deletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\4q25 proximal deletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\4q25 proximal deletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\4q25 proximal deletion syndrome

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5133553013 Proximal monosomy 4q25 en Synonym Active Case insensitive SNOMED CT core

5133554019 4q25 proximal deletion syndrome en Synonym Active Case insensitive SNOMED CT core

5133555018 4q25 proximal deletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5133559012 A partial deletion of the long arm of chromosome 4 characterised by complex behavioural difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth and mild hand deformities such as bilateral short fifth metacarpals and short hands. en Definition Active Case sensitive SNOMED CT core

5133560019 A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth and mild hand deformities such as bilateral short fifth metacarpals and short hands. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
4q25 proximal deletion syndrome	Is a	Proximal deletion of long arm of chromosome 4	true	Inferred relationship	Some
4q25 proximal deletion syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
4q25 proximal deletion syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
4q25 proximal deletion syndrome	Is a	Congenital anomaly of hand	true	Inferred relationship	Some
4q25 proximal deletion syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
4q25 proximal deletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
4q25 proximal deletion syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
4q25 proximal deletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
4q25 proximal deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
4q25 proximal deletion syndrome	Finding site	Chromosome pair 4	true	Inferred relationship	Some	1
4q25 proximal deletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Some	1
4q25 proximal deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
4q25 proximal deletion syndrome	Finding site	Hand structure	true	Inferred relationship	Some	2
4q25 proximal deletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
4q25 proximal deletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
4q25 proximal deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
4q25 proximal deletion syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
4q25 proximal deletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
4q25 proximal deletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
4q25 proximal deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
4q25 proximal deletion syndrome	Finding site	Chromosome pair 4	true	Inferred relationship	Some	4
4q25 proximal deletion syndrome	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5133553013	Proximal monosomy 4q25	en	Synonym	Active	Case insensitive	SNOMED CT core
5133554019	4q25 proximal deletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5133555018	4q25 proximal deletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5133559012	A partial deletion of the long arm of chromosome 4 characterised by complex behavioural difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth and mild hand deformities such as bilateral short fifth metacarpals and short hands.	en	Definition	Active	Case sensitive	SNOMED CT core
5133560019	A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth and mild hand deformities such as bilateral short fifth metacarpals and short hands.	en	Definition	Active	Case sensitive	SNOMED CT core