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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-bundet dominant chondrodysplasia punctata	Is a	Degenerative disorder of musculoskeletal system	false	Inferred relationship	Some
X-bundet dominant chondrodysplasia punctata	Is a	Atrophoderma	false	Inferred relationship	Some
X-bundet dominant chondrodysplasia punctata	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
X-bundet dominant chondrodysplasia punctata	Is a	Chondrodysplasia punctata	false	Inferred relationship	Some
X-bundet dominant chondrodysplasia punctata	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
X-bundet dominant chondrodysplasia punctata	Associated morphology	Atrophy (morphologic abnormality)	false	Inferred relationship	Some	2
X-bundet dominant chondrodysplasia punctata	Finding site	Skin structure	false	Inferred relationship	Some	2
X-bundet dominant chondrodysplasia punctata	Finding site	Bone structure	false	Inferred relationship	Some	1
X-bundet dominant chondrodysplasia punctata	Occurrence	Congenital	false	Inferred relationship	Some
X-bundet dominant chondrodysplasia punctata	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
X-bundet dominant chondrodysplasia punctata	Finding site	Bone structure	false	Inferred relationship	Some	1
X-bundet dominant chondrodysplasia punctata	Finding site	Skin structure	false	Inferred relationship	Some	2
X-bundet dominant chondrodysplasia punctata	Associated morphology	Atrophy (morphologic abnormality)	false	Inferred relationship	Some	2
X-bundet dominant chondrodysplasia punctata	Occurrence	Congenital	false	Inferred relationship	Some	3
X-bundet dominant chondrodysplasia punctata	Finding site	Bone structure	false	Inferred relationship	Some	3
X-bundet dominant chondrodysplasia punctata	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	3
X-bundet dominant chondrodysplasia punctata	Occurrence	Congenital	false	Inferred relationship	Some	1
X-bundet dominant chondrodysplasia punctata	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
X-bundet dominant chondrodysplasia punctata	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
X-bundet dominant chondrodysplasia punctata	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
X-bundet dominant chondrodysplasia punctata	Is a	X-linked hereditary disease (disorder)	false	Inferred relationship	Some
X-bundet dominant chondrodysplasia punctata	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
1497131000005111	X-bundet dominant chondrodysplasia punctata	da	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Danish module (core metadata concept)