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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
91766011 Hypoplasia en Synonym (core metadata concept) Active Only initial character 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 Only initial character 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
91770015 Acquired hypoplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
793513011 Hypoplasia (morphologic abnormality) en Fully specified name Active Only initial character 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 Existential restriction modifier (core metadata concept)
Hypoplasia Is a anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondrogenesis, type IB Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of left ventricular inflow tract Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic pontocerebellar hypoplasia subtype with characteristics of severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root and hypoplastic alae nasi) and an axonal sensorimotor neuropathy. Caused by homozygous mutation in the CLP1 gene on chromosome 11q12. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic pontocerebellar hypoplasia subtype with characteristics of severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root and hypoplastic alae nasi) and an axonal sensorimotor neuropathy. Caused by homozygous mutation in the CLP1 gene on chromosome 11q12. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital muscular dystrophy with cerebellar involvement Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Lissencephaly with cerebellar hypoplasia type A Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Thoracomelic dysplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplastic chondrodystrophy Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Undergrowth of whole hand Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Right hypoplastic heart syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Marie Unna syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
syndrome de Cayler Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Septo-optic dysplasia sequence Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
MASA syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Deficient mural leaflet of left ventricular component of common atrioventricular valve Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of cranial sinus (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of anulus fibrosus of aorta Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Primary congenital hypoplasia of bilateral lungs (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary congenital hypoplasia of bilateral lungs (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of optic nerve due to central nervous system malformation Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Optic nerve hypoplasia due to endocrine deficiency Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of right coronoid process of mandible (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of left coronoid process of mandible (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of right condyloid process of mandible (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of left condyloid process of mandible (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral secondary hypoplasia of lung Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral secondary hypoplasia of lung Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked complicated corpus callosum dysgenesis Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral coronoid hypoplasia of mandible Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral condylar hypoplasia of mandible Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus, brain defect, spasticity, hypernatremia syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Aase syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Left acquired malar hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Right acquired malar hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Acquired hypoplasia of bilateral zygomatic bones (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Acquired hypoplasia of bilateral zygomatic bones (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, brachydactyly, obesity, global developmental delay syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
SATB2-associated syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal brain and heart developmental defects syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Isolated hypoplasia of fovea centralis (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypoplasia of hypothalamus (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
MIRAGE syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Cerebellar-facial-dental syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypotrichosis with keratosis pilaris and lentiginosis Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia Savarirayan type (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Reinhardt Pfeiffer mesomelic dysplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Reinhardt Pfeiffer mesomelic dysplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
Congenital hypoplasia of testis and scrotum Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Right streak ovary (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Left streak ovary (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 11 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 11 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 12 Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 12 Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 12 Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital pontocerebellar hypoplasia type 13 Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 13 Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 14 Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 14 Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital hypoplasia of left zygomatic bone (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of right zygomatic bone (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of bilateral zygomatic bones (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of bilateral zygomatic bones (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Asymmetric crying facies syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1

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