FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.21 | FHIR Version n/a User: [n/a]

55199003: Hypoplasia (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\Growth alteration\Maturation defect\Hypoplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypoplasia	Is a	Maturation defect	true	Inferred relationship	Some
Hypoplasia	Is a	utvecklingsabnormitet	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypotrichosis with juvenile macular degeneration syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Achondrogenesis, type IB	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Hypoplasia of left ventricular inflow tract	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 10 (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 10 (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Congenital muscular dystrophy with cerebellar involvement	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Lissencephaly with cerebellar hypoplasia type E	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
svår akondroplasi med försenad utveckling och acanthosis nigricans	Associated morphology	False	Hypoplasia	Inferred relationship	Some	5
Thoracomelic dysplasia (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Hypoplastic chondrodystrophy	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Undergrowth of whole hand	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Right hypoplastic heart syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Marie Unna syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Asymmetric crying face association	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	4
Septo-optic dysplasia sequence	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Associated morphology	False	Hypoplasia	Inferred relationship	Some	2
MASA syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Deficient mural leaflet of left ventricular component of common atrioventricular valve	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Hypoplasia of cranial sinus (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Congenital hypoplasia of annulus fibrosus of aorta (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	4
Primary congenital hypoplasia of bilateral lungs (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Primary congenital hypoplasia of bilateral lungs (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Hypoplasia of optic nerve due to central nervous system malformation	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Optic nerve hypoplasia due to endocrine deficiency	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Hypoplasia of right coronoid process of mandible (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Hypoplasia of left coronoid process of mandible	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Hypoplasia of right condyloid process of mandible (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Hypoplasia of left condyloid process of mandible (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Oculo-auriculo-vertebral spectrum	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Bilateral secondary hypoplasia of lung	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Bilateral secondary hypoplasia of lung	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
X-linked complicated corpus callosum dysgenesis (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Bilateral coronoid hypoplasia of mandible	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Bilateral condylar hypoplasia of mandible	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	True	Hypoplasia	Inferred relationship	Some	6
Aase syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Left acquired malar hypoplasia	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Right acquired malar hypoplasia	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Acquired hypoplasia of bilateral zygomatic bones (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Acquired hypoplasia of bilateral zygomatic bones (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Short stature, brachydactyly, obesity, global developmental delay syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3

Start Previous Page 8 of 8

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
91766011	Hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
91769016	Hypocellularity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
793513011	Hypoplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8981000052113	hypoplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)