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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit hypoplasi	Is a	Hypoplasia	false	Inferred relationship	Some
kongenit hypoplasi	Is a	kongenit anomali	false	Inferred relationship	Some
kongenit hypoplasi	Is a	Kongenit malformation	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital transverse mandibular hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Congenital hypoplasia of frontal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of interparietal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of ischium	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of mitral valve	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of thymus	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Microglossia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hereditary splenic hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Congenital hypoplasia of fibula	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplastic thumb-Blauth 3	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of palatine bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Myelatelia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of aortic arch	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplastic thumb-Blauth 4	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of renal papilla	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of right heart	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
De Sanctis-Cacchiones syndrom	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Turner's tooth	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of talus (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of basioccipital bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of heart	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of vas deferens	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of lacrimal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of fallopian tube (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Pulmonary valve ring hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of humerus	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of pancreas	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of kidney	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of ulna	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of urinary bladder	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasi af aortaklapring	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of alisphenoid bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of fallopian tube (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of pulmonary artery	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of right pulmonary artery (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of left pulmonary artery (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of left pulmonary artery (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Pulmonary venous hypoplasia (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of right pulmonary artery (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of infundibular septum (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of trabecular portion of right ventricle (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of left ventricular outflow tract and trabecular area	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of left ventricular inflow tract	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Left atrial hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Left ventricular hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Aortic arch hypoplasia between subclavian and common carotid arteries (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Pulmonary trunk hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of mitral valve annulus (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of trabecular portion of left ventricle (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of left heart without intrinsic valve stenosis and without atresia (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Pulmonary venous hypoplasia (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder)	Associated morphology	False	kongenit hypoplasi	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	kongenit hypoplasi	Inferred relationship	Some	2
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplastic tricuspid papillary muscle	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Aortic arch hypoplasia between carotid arteries (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Hypoplasia of left ventricular outflow tract (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Diffuse hypoplasia of left ventricle	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Aortic arch hypoplasia distal to subclavian artery (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hereditary splenic hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Congenital hypoplasia of spleen	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Congenital hypoplasia of descending aorta (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Congenital hypoplasia of abdominal aorta (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Congenital hypoplasia of thoracoabdominal aorta (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Congenital hypoplasia of brain	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Hypoplasia of eye (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Hypoplastic mitral papillary muscle	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Achondrogenesis, type IA	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Hypoplasia of uterus and cervix	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Hypoplasia of uterus and cervix	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Achondrogenesis, type IB	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Achondrogenesis (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Achondrogenesis, type II	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Achondroplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	5
Severe achondrolasia with developmental delay and acanthosis nigricans	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	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 (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24.	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	5
Hypoplastic tricuspid papillary muscle	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	4
Antley-Bixler syndrome	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	4
Craniofacial microsomia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Bilateral craniofacial microsomia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of lower limb	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Komplet underudvikling af overekstremitet	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Delvis underudvikling af overekstremitet	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Underudvikling af overekstremitet	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Ask-Upmark kidney	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Congenital hypotrichia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Hypotrichosis with keratosis pilaris and lentiginosis (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Hypoplasia of left ventricular inflow tract	Associated morphology	False	kongenit hypoplasi	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	kongenit hypoplasi	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	kongenit hypoplasi	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	kongenit hypoplasi	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	kongenit hypoplasi	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	kongenit hypoplasi	Inferred relationship	Some	4
Congenital hypoganglionosis of large intestine (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	3
Congenital hypoganglionosis of large intestine (disorder)	Associated morphology	False	kongenit hypoplasi	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	kongenit hypoplasi	Inferred relationship	Some	11

Start Previous Page 4 of 5 End

Reference Sets

Concept inactivation indicator reference set

GB English

US English

SAME AS association reference set (foundation metadata concept)

Back to Start

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
2676761000005113	kongenit hypoplasi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)