55199003: hypoplasie (afwijkende morfologie)

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	gebrekkige ontwikkeling (afwijkende morfologie)	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
ernstige achondroplasie met ontwikkelingsachterstand en acanthosis nigricans (aandoening)	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'-associatie (aandoening)	Associated morphology	False	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
SATB2-associated syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Associated morphology	True	Hypoplasia	Inferred relationship	Some	4
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Lethal brain and heart developmental defects syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Isolated hypoplasia of fovea centralis (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	6
Hypoplasia of hypothalamus	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	4
Cerebellar-facial-dental syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Hypotrichosis with keratosis pilaris and lentiginosis	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	7
Congenital hypoplasia of testis and scrotum (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Right streak ovary (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Left streak ovary (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Xp21 deletion syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 11 (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 11 (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 12	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 12	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 12	Associated morphology	True	Hypoplasia	Inferred relationship	Some	4
Congenital pontocerebellar hypoplasia type 13	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 13	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 14	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 14	Associated morphology	True	Hypoplasia	Inferred relationship	Some	3
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	6
Congenital hypoplasia of left zygomatic bone (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Congenital hypoplasia of right zygomatic bone (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Congenital hypoplasia of bilateral zygomatic bones (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Congenital hypoplasia of bilateral zygomatic bones (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2
Isolated asymmetric crying facies	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Asymmetric crying facies syndrome	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Partial craniofacial microsomia (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Congenital hypoplasia of forearm (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Lengthening of hypoplastic finger with bone graft (procedure)	Direct morphology	True	Hypoplasia	Inferred relationship	Some	1
Leydig cell hypoplasia type II (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	1
Congenital hypoplasia of maxilla and zygomatic bone (disorder)	Associated morphology	True	Hypoplasia	Inferred relationship	Some	2

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Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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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
835781000146111	hypoplasie (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
835791000146113	hypoplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)