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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
793513011 Hypoplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoplasia (morphologic abnormality) est un(e) (attribut) Maturation defect true Inferred relationship Some
Hypoplasia (morphologic abnormality) est un(e) (attribut) 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 (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 4
Dandy-Walker syndrome with spina bifida morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 9 (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 9 (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Foveal hypoplasia with presenile cataract syndrome morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
[EDTA] Congenital renal hypoplasia - type unspecified associated with renal failure morphologie associée (attribut) False Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Leydig cell agenesis (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
achondrogenèse type 1A (trouble) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Congenital hypoganglionosis of large intestine (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Congenital hypoganglionosis of large intestine (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Acrorenal mandibular syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 3
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
défaut de développement de la moelle épinière (trouble) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hemifacial microsomia with radial defect syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Incomplete development of membranous labyrinth (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hypoplastic tricuspid papillary muscle morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hypoplasia of eye morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Rudimentary tracheal bronchus morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Congenital hypoplasia of finger (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
achondrogenèse (trouble) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 3
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Achondrogenesis, type II morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hypoplastic mitral papillary muscle morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 4
Camptomelic dysplasia morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 4
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) morphologie associée (attribut) False Hypoplasia (morphologic abnormality) Inferred relationship Some 3
Achondroplasia morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 4
Stimmler syndrome morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 3
Achondrogenesis, type IB morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hypoplasia of left ventricular inflow tract morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 10 (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 10 (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Congenital muscular dystrophy with cerebellar involvement morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Lissencephaly with cerebellar hypoplasia type E morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) morphologie associée (attribut) False Hypoplasia (morphologic abnormality) Inferred relationship Some 5
Thoracomelic dysplasia (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Hypoplastic chondrodystrophy morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 3
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Undergrowth of whole hand morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Right hypoplastic heart syndrome morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Marie Unna syndrome morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Asymmetric crying face association (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 4
Septo-optic dysplasia sequence morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) morphologie associée (attribut) False Hypoplasia (morphologic abnormality) Inferred relationship Some 2
MASA syndrome morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Deficient mural leaflet of left ventricular component of common atrioventricular valve morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hypoplasia of cranial sinus (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Congenital hypoplasia of annulus fibrosus of aorta (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 4
Primary congenital hypoplasia of bilateral lungs (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Primary congenital hypoplasia of bilateral lungs (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hypoplasia of optic nerve due to central nervous system malformation morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Optic nerve hypoplasia due to endocrine deficiency morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hypoplasia of right coronoid process of mandible (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hypoplasia of left coronoid process of mandible morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hypoplasia of right condyloid process of mandible (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Hypoplasia of left condyloid process of mandible (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Oculo-auriculo-vertebral spectrum morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Bilateral secondary hypoplasia of lung morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Bilateral secondary hypoplasia of lung morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
X-linked complicated corpus callosum dysgenesis (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Bilateral coronoid hypoplasia of mandible morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Bilateral condylar hypoplasia of mandible morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Endosteal hyperostoses with cerebellar hypoplasia morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 6
Aase syndrome morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Left acquired malar hypoplasia morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Right acquired malar hypoplasia morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Acquired hypoplasia of bilateral zygomatic bones (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Acquired hypoplasia of bilateral zygomatic bones (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 1
Short stature, brachydactyly, obesity, global developmental delay syndrome morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 3
SATB2-associated syndrome morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) morphologie associée (attribut) True Hypoplasia (morphologic abnormality) Inferred relationship Some 3

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