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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital hypoplasia Is a Hypoplasia false Inferred relationship Some
    Congenital hypoplasia Is a anomalie congénitale false Inferred relationship Some
    Congenital hypoplasia Is a Congenital malformation false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital transverse mandibular hypoplasia (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 2
    Congenital hypoplasia of frontal bone Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of interparietal bone Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of ischium Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of mitral valve Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of thymus Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Microglossia Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hereditary splenic hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Some 2
    Congenital hypoplasia of fibula Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplastic thumb-Blauth 3 Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of palatine bone Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Myelatelia Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of aortic arch Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplastic thumb-Blauth 4 (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of renal papilla (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplasia of right heart Associated morphology False Congenital hypoplasia Inferred relationship Some 2
    Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Turner's tooth Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of talus Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of basioccipital bone Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of heart Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of vas deferens Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of lacrimal bone Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of fallopian tube (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Pulmonary valve ring hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of humerus Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of pancreas Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of kidney Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of ulna Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of urinary bladder Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Aortic valve ring hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of alisphenoid bone Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of fallopian tube (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of pulmonary artery (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of right pulmonary artery (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of left pulmonary artery (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of left pulmonary artery (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Pulmonary venous hypoplasia (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Congenital hypoplasia of right pulmonary artery (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplasia of infundibular septum (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplasia of trabecular portion of right ventricle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplasia of left ventricular outflow tract and trabecular area Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplasia of left ventricular inflow tract Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Left atrial hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Left ventricular hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Aortic arch hypoplasia between subclavian and common carotid arteries (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Pulmonary trunk hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplasia of mitral valve annulus (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplasia of trabecular portion of left ventricle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplasia of left heart without intrinsic valve stenosis and without atresia (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Pulmonary venous hypoplasia (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 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 Some 2
    Hypoplasia of left atrioventricular valve annulus in double inlet ventricle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplastic tricuspid papillary muscle Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Aortic arch hypoplasia between carotid arteries (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 2
    Hypoplasia of left ventricular outflow tract Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Diffuse hypoplasia of left ventricle (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Aortic arch hypoplasia distal to subclavian artery (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hereditary splenic hypoplasia Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Congenital hypoplasia of spleen Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Congenital hypoplasia of descending aorta (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 2
    Congenital hypoplasia of abdominal aorta (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 2
    Congenital hypoplasia of thoracoabdominal aorta (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 2
    Congenital hypoplasia of brain Associated morphology False Congenital hypoplasia Inferred relationship Some 2
    Hypoplasia of eye Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Hypoplastic mitral papillary muscle Associated morphology False Congenital hypoplasia Inferred relationship Some 2
    Achondrogenesis, type IA Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Hypoplasia of uterus and cervix Associated morphology False Congenital hypoplasia Inferred relationship Some 2
    Hypoplasia of uterus and cervix Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Achondrogenesis, type IB Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Achondrogenesis Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Achondrogenesis, type II Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Achondroplasia Associated morphology False Congenital hypoplasia Inferred relationship Some 5
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Associated morphology False Congenital hypoplasia Inferred relationship Some 5
    Hypoplastic tricuspid papillary muscle Associated morphology False Congenital hypoplasia Inferred relationship Some 2
    Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. Associated morphology False Congenital hypoplasia Inferred relationship Some 4
    Antley-Bixler syndrome Associated morphology False Congenital hypoplasia Inferred relationship Some 4
    Craniofacial microsomia Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Bilateral craniofacial microsomia Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Hypoplasia of lower limb Associated morphology False Congenital hypoplasia Inferred relationship Some 1
    Undergrowth of whole upper limb Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Undergrowth of partial upper limb Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Undergrowth of upper limb Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Ask-Upmark kidney Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Congenital hypotrichia Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Hypotrichosis with keratosis pilaris and lentiginosis Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Hypoplasia of left ventricular inflow tract Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Associated morphology False Congenital hypoplasia Inferred relationship Some 6
    A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Associated morphology False Congenital hypoplasia Inferred relationship Some 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 Some 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 Some 4
    Congenital hypoganglionosis of large intestine (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 3
    Congenital hypoganglionosis of large intestine (disorder) Associated morphology False Congenital hypoplasia Inferred relationship Some 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 Some 11

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