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764956007: Larsen-like osseous dysplasia, short stature 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
3655764012 Larsen-like osseous dysplasia, short stature syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655765013 Larsen-like osseous dysplasia, short stature syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404422019 Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404423012 Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterised by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655764012 Larsen-like osseous dysplasia, short stature syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655765013 Larsen-like osseous dysplasia, short stature syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655679012 A rare primary bone dysplasia with characteristics of a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404422019 Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404423012 Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterised by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423891001000113 Larsen-ähnliches Syndrom - Knochendysplasie - Kleinwuchs de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889511000172113 syndrome de dysplasie osseuse Larsen-like-nanisme fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
981781000172115 syndrome de nanisme, laxité ligamentaire, retard de croissance fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889511000172113 syndrome de dysplasie osseuse Larsen-like-nanisme fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
981781000172115 syndrome de nanisme, laxité ligamentaire, retard de croissance fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423891001000113 Larsen-ähnliches Syndrom - Knochendysplasie - Kleinwuchs 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
Larsen-like osseous dysplasia, short stature syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like osseous dysplasia, short stature syndrome Is a Multiple dislocations with dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like osseous dysplasia, short stature syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like osseous dysplasia, short stature syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like osseous dysplasia, short stature syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like osseous dysplasia, short stature syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like osseous dysplasia, short stature syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like osseous dysplasia, short stature syndrome Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Larsen-like osseous dysplasia, short stature syndrome Associated morphology Dislocation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Larsen-like osseous dysplasia, short stature syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like osseous dysplasia, short stature syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Larsen-like osseous dysplasia, short stature syndrome Due to Spontaneous event (event) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Larsen-like osseous dysplasia, short stature syndrome Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Larsen-like osseous dysplasia, short stature syndrome Associated morphology Damage false Inferred relationship Existential restriction modifier (core metadata concept) 6
Larsen-like osseous dysplasia, short stature syndrome Is a Bone injury true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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