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

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
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
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	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Hypotrichosis and intellectual disability syndrome Lopes type	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
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	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital ichthyosis with hypotrichosis syndrome (disorder)	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	9
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	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Temple Baraitser syndrome (disorder)	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Temple Baraitser syndrome (disorder)	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hemifacial microsomia (disorder)	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hemifacial microsomia with radial defect syndrome (disorder)	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Stabilization of hypoplastic thumb	Direct morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder)	Associated morphology	False	Congenital hypoplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)