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 hypoplasia of eye bulge	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of femur	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of fibula	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of forepaw phalanx	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of frontal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of gallbladder	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of genital tubercle	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of gonad	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 hindpaw phalanx	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 hyoid bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of ilium	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 intestinal tract	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 lacrimal bone	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 metacarpal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of metatarsal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of nasal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of nasal cavity	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of nasal turbinate	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of nasal septum	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of nose	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of ovary	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 palatine bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of parietal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of paw	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of premaxilla	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of presphenoid bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of pubis	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of pulmonary valve	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of radius	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of renal pelvis	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of rib	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of spleen	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of squamosal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of supraoccipital bone	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 tarsal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of thymus	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of tibia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of tympanic anulus	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 vas deferens	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of vomer	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of zygomatic bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital short tail	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of choroid	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Congenital alveolar hypoplasia of mandible	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital alveolar hypoplasia of maxilla	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital transverse maxillary hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital vertical maxillary hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Mikrognati, uspecificeret	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
[EDTA] Oligomeganephronic hypoplasia associated with renal failure	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Congenital absence of pancreas	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Congenital thyroid hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
De Sanctis-Cacchiones syndrom	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Postductal hypoplasia of aorta	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Secondary pulmonary hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Pulmonary hypoplasia associated with short gestation	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Primary pulmonary hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of scrotum	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Cerebro-costo-mandibular syndrome	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Hypoplastic thumb-Blauth 3	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplastic thumb-Blauth 5	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplastic thumb-Blauth 1	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplastic thumb-Blauth 2	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplastic thumb-Blauth 4	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of uterus and cervix	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplasia of thumb	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplastic mitral papillary muscle	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of mitral valve	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital small renal papilla	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of renal papilla	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of fovea centralis (disorder)	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Familial hypoplastic, glomerulocystic kidney	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
[EDTA] Congenital renal hypoplasia - type unspecified associated with renal failure	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Bilateral renal hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Bilateral renal hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Unilateral renal hypoplasi	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplastic mitral papillary muscle	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Primary pulmonary hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital horizontal mandibular hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Congenital hypoplasia of nasal septum	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of nasal turbinate	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of nasal 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 nasal cavity	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Pulmonary valve cusp hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of arch of sacral vertebra	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of metatarsal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of metacarpal bone	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Rudimentary tracheal bronchus	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital vertical mandibular hypoplasia	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	2
Congenital hypoplasia of forepaw phalanx	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Congenital hypoplasia of hindpaw phalanx	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1
Hypoplastic thumb-Blauth 2	Associated morphology	False	kongenit hypoplasi	Inferred relationship	Some	1

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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)