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55199003: Hypoplasia (morphologic abnormality)

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

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoplasia Is a Maturation defect true Inferred relationship Some
Hypoplasia Is a Developmental anomaly 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
Severe achondrolasia with developmental delay and 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
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

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