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38146002: Congenital hypoplasia (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    64768019 Congenital hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    64773013 Rudimentary structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    64774019 Incomplete development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    64775018 Underdevelopment en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    771355019 Congenital hypoplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    64768019 Congenital hypoplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    64768019 Congenital hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    64773013 Rudimentary structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    64773013 Rudimentary structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    64774019 Incomplete development en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    64774019 Incomplete development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    64775018 Underdevelopment en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    64775018 Underdevelopment en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    771355019 Congenital hypoplasia (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    771355019 Congenital 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
    Congenital hypoplasia Is a Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hypoplasia Is a anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital hypoplasia Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital transverse mandibular hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital hypoplasia of frontal bone Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of interparietal bone Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of ischium Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of mitral valve Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of thymus Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microglossia (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hereditary splenic hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital hypoplasia of fibula Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplastic thumb-Blauth 3 (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of palatine bone Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Myelatelia Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of aortic arch (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplastic thumb-Blauth 4 Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of renal papilla Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplasia of right heart Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Turner's tooth Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of talus (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of basioccipital bone Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of heart Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of vas deferens Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of lacrimal bone Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of fallopian tube (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pulmonary valve ring hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of humerus Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of pancreas (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of kidney Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of ulna Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of urinary bladder Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Aortic valve ring hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of alisphenoid bone Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Jeune thoracic dystrophy (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of fallopian tube (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of pulmonary artery Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of right pulmonary artery (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of left pulmonary artery (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of left pulmonary artery (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pulmonary venous hypoplasia (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital hypoplasia of right pulmonary artery (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplasia of infundibular septum (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplasia of trabecular portion of right ventricle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplasia of left ventricular outflow tract and trabecular area Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplasia of left ventricular inflow tract Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Left atrial hypoplasia (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Left ventricular hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Aortic arch hypoplasia between subclavian and common carotid arteries (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pulmonary trunk hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplasia of mitral valve annulus Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplasia of trabecular portion of left ventricle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplasia of left heart without intrinsic valve stenosis and without atresia (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pulmonary venous hypoplasia (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) Associated morphology False Congenital 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 False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Hypoplasia of left atrioventricular valve annulus in double inlet ventricle Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplastic tricuspid papillary muscle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Aortic arch hypoplasia between carotid arteries Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Hypoplasia of left ventricular outflow tract (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Diffuse hypoplasia of left ventricle Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Aortic arch hypoplasia distal to subclavian artery (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hereditary splenic hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Congenital hypoplasia of spleen Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Congenital hypoplasia of descending aorta (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital hypoplasia of abdominal aorta (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital hypoplasia of thoracoabdominal aorta (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital hypoplasia of brain Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Hypoplasia of eye Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Hypoplastic mitral papillary muscle Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Achondrogenesis, type IA Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Hypoplasia of uterus and cervix Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Hypoplasia of uterus and cervix Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Achondrogenesis, type IB Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Achondrogenesis Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Achondrogenesis, type II (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Achondroplasia Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    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 False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
    Hypoplastic tricuspid papillary muscle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Jeune thoracic dystrophy (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Antley-Bixler syndrome Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Craniofacial microsomia (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Bilateral craniofacial microsomia (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplasia of lower limb Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Undergrowth of whole upper limb Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Undergrowth of partial upper limb Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Undergrowth of upper limb Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Ask-Upmark kidney (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Congenital hypotrichia Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Hypotrichosis with keratosis pilaris and lentiginosis Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Hypoplasia of left ventricular inflow tract Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Mammary digital nail syndrome (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
    Acrorenal mandibular syndrome (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    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 False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    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 False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Congenital hypoganglionosis of large intestine Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
    Congenital hypoganglionosis of large intestine Associated morphology False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    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 False Congenital hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 11

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