1236843008: Phosphodiesterase 4D haploinsufficiency syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\PDE4D haploinsufficiency syndrome

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency 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\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\PDE4D haploinsufficiency syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\PDE4D haploinsufficiency syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\PDE4D haploinsufficiency syndrome

\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\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\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\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\PDE4D haploinsufficiency syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
\Disease\Developmental disorder\Developmental delay\PDE4D haploinsufficiency syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

5089270010 PDE4D haploinsufficiency syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5089271014 Phosphodiesterase 4D haploinsufficiency syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5089272019 Phosphodiesterase 4D haploinsufficiency syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5089273012 PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability with characteristics of developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. 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
PDE4D haploinsufficiency syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
PDE4D haploinsufficiency syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
PDE4D haploinsufficiency syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
PDE4D haploinsufficiency syndrome	Finding site	Limb structure	true	Inferred relationship	Some	1
PDE4D haploinsufficiency syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
PDE4D haploinsufficiency syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
PDE4D haploinsufficiency syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
PDE4D haploinsufficiency syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
PDE4D haploinsufficiency syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
PDE4D haploinsufficiency syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
PDE4D haploinsufficiency syndrome	Is a	Developmental delay	true	Inferred relationship	Some
PDE4D haploinsufficiency syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
PDE4D haploinsufficiency syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
PDE4D haploinsufficiency syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
PDE4D haploinsufficiency syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4

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
5089270010	PDE4D haploinsufficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089271014	Phosphodiesterase 4D haploinsufficiency syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5089272019	Phosphodiesterase 4D haploinsufficiency syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5089273012	PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability with characteristics of developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core