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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
Congenital horizontal mandibular hypoplasia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Diffuse hypoplasia of right ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 5 Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of cerebrum Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal limb deficiency with micrognathia syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Amyotrophia congenita Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
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 True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Left renal agenesis co-occurrent with right renal hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
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 True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
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) 1
Limb mammary syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Scimitar syndrome with additional anomalous pulmonary venous connection Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Scimitar syndrome with additional anomalous pulmonary venous connection Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Scimitar syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Scimitar syndrome Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Mandibular hypoplasia, deafness, progeroid syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Stabilization of hypoplastic thumb Direct morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Streak gonad Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplastic left heart syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Turner's tooth Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplasia of left heart without intrinsic valve stenosis and without atresia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Antley-Bixler syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of eye bulge (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis with keratosis pilaris and lentiginosis Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypotrichia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Temple Baraitser syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Temple Baraitser syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemifacial microsomia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Mammary digital nail syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Microglossia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniofacial microsomia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral craniofacial microsomia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of uterus and cervix Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of ovary (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital ichthyosis with hypotrichosis syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Streak ovary Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Dandy-Walker syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Pettigrew syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Dandy-Walker syndrome with spina bifida Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 9 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 9 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Foveal hypoplasia with presenile cataract syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Leydig cell agenesis Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondrogenesis, type IA Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoganglionosis of large intestine Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoganglionosis of large intestine Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrorenal mandibular syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Myelatelia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis and intellectual disability syndrome Lopes type Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemifacial microsomia with radial defect syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Incomplete development of membranous labyrinth (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplastic tricuspid papillary muscle (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of eye Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Rudimentary tracheal bronchus Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Rudimentary finger Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondrogenesis Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Achondrogenesis, type II (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplastic mitral papillary muscle Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondroplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
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

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