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403778001: X-linked dominant chondrodysplasia punctata of Happle (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-bunden dominant chondrodysplasia punctata, Happle	Is a	Degenerative disorder of musculoskeletal system	false	Inferred relationship	Some
X-bunden dominant chondrodysplasia punctata, Happle	Is a	atrofoderma	false	Inferred relationship	Some
X-bunden dominant chondrodysplasia punctata, Happle	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
X-bunden dominant chondrodysplasia punctata, Happle	Is a	Chondrodysplasia punctata	false	Inferred relationship	Some
X-bunden dominant chondrodysplasia punctata, Happle	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
X-bunden dominant chondrodysplasia punctata, Happle	Associated morphology	Atrophy	false	Inferred relationship	Some	2
X-bunden dominant chondrodysplasia punctata, Happle	Finding site	Skin structure	false	Inferred relationship	Some	2
X-bunden dominant chondrodysplasia punctata, Happle	Finding site	Bone structure	false	Inferred relationship	Some	1
X-bunden dominant chondrodysplasia punctata, Happle	Occurrence	Congenital	false	Inferred relationship	Some
X-bunden dominant chondrodysplasia punctata, Happle	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
X-bunden dominant chondrodysplasia punctata, Happle	Finding site	Bone structure	false	Inferred relationship	Some	1
X-bunden dominant chondrodysplasia punctata, Happle	Finding site	Skin structure	false	Inferred relationship	Some	2
X-bunden dominant chondrodysplasia punctata, Happle	Associated morphology	Atrophy	false	Inferred relationship	Some	2
X-bunden dominant chondrodysplasia punctata, Happle	Occurrence	Congenital	false	Inferred relationship	Some	3
X-bunden dominant chondrodysplasia punctata, Happle	Finding site	Bone structure	false	Inferred relationship	Some	3
X-bunden dominant chondrodysplasia punctata, Happle	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	3
X-bunden dominant chondrodysplasia punctata, Happle	Occurrence	Congenital	false	Inferred relationship	Some	1
X-bunden dominant chondrodysplasia punctata, Happle	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
X-bunden dominant chondrodysplasia punctata, Happle	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
X-bunden dominant chondrodysplasia punctata, Happle	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
X-bunden dominant chondrodysplasia punctata, Happle	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-bunden dominant chondrodysplasia punctata, Happle	Is a	Developmental hereditary disorder	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1771704018	X-linked dominant chondrodysplasia punctata of Happle (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1782788014	X-linked dominant chondrodysplasia punctata of Happle	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1787869018	X-linked dominant ichthyosis (Happle)	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
276361000052119	X-bunden dominant chondrodysplasia punctata, Happle	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)