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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
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
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 False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 9
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
Limb mammary syndrome Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal limb deficiency with micrognathia syndrome Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pulmonary hypoplasia due to lung space occupying lesion (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital hypoplasia of patella (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of right ventricular outflow tract and trabecular area (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Isolated hypoplasia of optic nerve (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
Congenital hypoplasia of ulna and split foot syndrome Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypoplasia of mandibular condyle Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial adrenocortical hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital hypoplasia of right optic nerve (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of left optic nerve (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of bilateral optic nerves (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of bilateral optic nerves (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital hypoplasia of odontoid process of axis Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of sacrum Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldenhar syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of auditory canal (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Left renal hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Right renal hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Left renal agenesis co-occurrent with right renal hypoplasia Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of right kidney co-occurrent with hypoplasia of left kidney (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolyte abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloperipheral dysplasia with short ulna syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, congenital, vascular anomaly syndrome characterised by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and oedematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ask-Upmark kidney (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypertrophy of left kidney co-occurrent and due to congenital hypoplasia of right kidney (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, congenital, vascular anomaly syndrome characterised by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and oedematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypertrophy of right kidney co-occurrent and due to congenital hypoplasia of left kidney Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated hypoplasia of cerebellar vermis (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Transient hypoplastic anemia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital hypoplastic anaemia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Double aortic arch with dominant left arch and hypoplasia of right arch (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Double aortic arch with dominant right arch and hypoplasia of left arch (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Acquired micrognathia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal chondrodysplasia, McKusick type Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of entire upper limb (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of part of upper limb Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia with radial ray hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Isolated bilateral hemispheric cerebellar hypoplasia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Thumb deformity, alopecia, pigmentation anomaly syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Parietal foramina with clavicular hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 4 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterised by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral renal hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Lissencephaly with cerebellar hypoplasia type F Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital transverse mandibular hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Lissencephaly with cerebellar hypoplasia type C Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 8 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital micrognathism Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndromic hypoplasia of orbital border (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
MORM syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of corpus callosum Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of right ventricular outflow tract and trabecular area (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of right ventricular inflow tract (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of right ventricular outflow tract Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital vertical mandibular hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Testicular regression syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 7 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Intrahepatic biliary hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pulmonary hypoplasia due to lung space occupying lesion (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Septo-optic dysplasia sequence Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Lissencephaly with cerebellar hypoplasia type B Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of ulna and split foot syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Pulmonary hypoplasia associated with short gestation (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Oligomeganephronic hypoplasia of kidney Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebro-costo-mandibular syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 2 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of cardiac ventricle Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital horizontal mandibular hypoplasia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1

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