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763631006: Short stature, wormian bones, dextrocardia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643102014 Short stature, wormian bones, dextrocardia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643103016 Short stature, wormian bones, dextrocardia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643104010 Stratton Parker syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404125011 A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404126012 A multiple congenital anomalies syndrome characterised by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643102014 Short stature, wormian bones, dextrocardia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643103016 Short stature, wormian bones, dextrocardia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643104010 Stratton Parker syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643101019 A multiple congenital anomalies syndrome with characteristics of wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge and microstomia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404125011 A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404126012 A multiple congenital anomalies syndrome characterised by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3411771001000113 Kleinwuchs-Wormsche Knochen-Dextrokardie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411771001000113 Kleinwuchs-Wormsche Knochen-Dextrokardie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature, wormian bones, dextrocardia syndrome Due to Growth hormone deficiency (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature, wormian bones, dextrocardia syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, wormian bones, dextrocardia syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, wormian bones, dextrocardia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, wormian bones, dextrocardia syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, wormian bones, dextrocardia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, wormian bones, dextrocardia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, wormian bones, dextrocardia syndrome Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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