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55199003: Hypoplasia (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
793513011 Hypoplasia (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core
91766011 Hypoplasia en Synonym Active Case insensitive SNOMED CT core
91769016 Hypocellularity en Synonym Active Case insensitive 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 abnormality false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Associated morphology True Hypoplasia Inferred relationship Some 4
Dandy-Walker syndrome with spina bifida Associated morphology True Hypoplasia Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome Associated morphology True Hypoplasia Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Associated morphology True Hypoplasia Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 9 Associated morphology True Hypoplasia Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 9 Associated morphology True Hypoplasia Inferred relationship Some 1
Foveal hypoplasia with presenile cataract syndrome Associated morphology True Hypoplasia Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Associated morphology True Hypoplasia Inferred relationship Some 2
[EDTA] Congenital renal hypoplasia - type unspecified associated with renal failure Associated morphology False Hypoplasia Inferred relationship Some 1
Leydig cell agenesis Associated morphology True Hypoplasia Inferred relationship Some 1
Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle Associated morphology True Hypoplasia Inferred relationship Some 1
Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle Associated morphology True Hypoplasia Inferred relationship Some 1
Achondrogenesis, type IA Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoganglionosis of large intestine Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoganglionosis of large intestine Associated morphology True Hypoplasia Inferred relationship Some 2
Acrorenal mandibular syndrome Associated morphology True Hypoplasia Inferred relationship Some 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology True Hypoplasia Inferred relationship Some 3
Haspeslagh Fryns Muelenaere syndrome Associated morphology True Hypoplasia Inferred relationship Some 1
Myelatelia Associated morphology True Hypoplasia Inferred relationship Some 1
Hypotrichosis and intellectual disability syndrome Lopes type Associated morphology True Hypoplasia Inferred relationship Some 1
Oculoauriculovertebral spectrum with radial defects Associated morphology True Hypoplasia Inferred relationship Some 1
Incomplete development of membranous labyrinth Associated morphology True Hypoplasia Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplastic tricuspid papillary muscle Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of eye Associated morphology True Hypoplasia Inferred relationship Some 1
Rudimentary tracheal bronchus Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of finger Associated morphology True Hypoplasia Inferred relationship Some 1
Achondrogenesis Associated morphology True Hypoplasia Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology True Hypoplasia Inferred relationship Some 3
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle Associated morphology True Hypoplasia Inferred relationship Some 1
Achondrogenesis, type II Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplastic mitral papillary muscle Associated morphology True Hypoplasia Inferred relationship Some 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Associated morphology True Hypoplasia Inferred relationship Some 4
Camptomelic dysplasia Associated morphology True Hypoplasia Inferred relationship Some 4
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome Associated morphology True Hypoplasia Inferred relationship Some 2
Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Hypoplasia Inferred relationship Some 3
Achondroplasia Associated morphology True Hypoplasia Inferred relationship Some 2
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle Associated morphology True Hypoplasia Inferred relationship Some 1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Associated morphology True Hypoplasia Inferred relationship Some 1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Associated morphology True Hypoplasia Inferred relationship Some 4
Stimmler syndrome Associated morphology True Hypoplasia Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration syndrome 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 Associated morphology True Hypoplasia Inferred relationship Some 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Associated morphology True Hypoplasia Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 10 Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 10 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 co-occurrent with congenital cerebellar hypoplasia type E Associated morphology True Hypoplasia Inferred relationship Some 1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A 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 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 luteinising hormone 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 Associated morphology True Hypoplasia Inferred relationship Some 1
Asymmetric crying face association Associated morphology True Hypoplasia Inferred relationship Some 1
Fryns syndrome Associated morphology True Hypoplasia Inferred relationship Some 5
Fryns syndrome 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 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 Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of annulus fibrosus of aorta Associated morphology True Hypoplasia Inferred relationship Some 1
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome Associated morphology True Hypoplasia Inferred relationship Some 4
Bilateral primary congenital hypoplasia of lung Associated morphology True Hypoplasia Inferred relationship Some 1
Bilateral primary congenital hypoplasia of lung Associated morphology True Hypoplasia Inferred relationship Some 2
Leydig cell hypoplasia due to complete luteinising hormone receptor inactivation Associated morphology True Hypoplasia Inferred relationship Some 1
Leydig cell hypoplasia due to partial luteinising 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 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 Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of left condyloid process of mandible 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 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, hypernatraemia syndrome 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
Bilateral acquired malar hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Bilateral acquired malar hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 2
Congenital cerebellar ataxia due to RNU12 mutation Associated morphology True Hypoplasia Inferred relationship Some 1
Repair of hypoplastic aortic arch Direct morphology True Hypoplasia Inferred relationship Some 859816706
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
MIRAGE syndrome Associated morphology False Hypoplasia Inferred relationship Some 539252

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Reference Sets

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