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699870002: Severe achondrolasia with developmental delay and acanthosis nigricans (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe achondrolasia with developmental delay and acanthosis nigricans	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans	Is a	Acanthosis nigricans (disorder)	false	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans	Is a	Achondroplasia	false	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans	Occurrence	Congenital	false	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans	Finding site	Skin structure	false	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Severe achondrolasia with developmental delay and acanthosis nigricans	Finding site	Bone structure	false	Inferred relationship	Some	5
Severe achondrolasia with developmental delay and acanthosis nigricans	Associated morphology	Growth alteration	false	Inferred relationship	Some	6
Severe achondrolasia with developmental delay and acanthosis nigricans	Finding site	Structure of epiphysis	false	Inferred relationship	Some	6
Severe achondrolasia with developmental delay and acanthosis nigricans	Occurrence	Congenital	false	Inferred relationship	Some	1
Severe achondrolasia with developmental delay and acanthosis nigricans	Finding site	Bone structure	false	Inferred relationship	Some	1
Severe achondrolasia with developmental delay and acanthosis nigricans	Occurrence	Congenital	false	Inferred relationship	Some	2
Severe achondrolasia with developmental delay and acanthosis nigricans	Occurrence	Congenital	false	Inferred relationship	Some	3
Severe achondrolasia with developmental delay and acanthosis nigricans	Finding site	Bone structure	false	Inferred relationship	Some	3
Severe achondrolasia with developmental delay and acanthosis nigricans	Associated morphology	Growth alteration	false	Inferred relationship	Some	2
Severe achondrolasia with developmental delay and acanthosis nigricans	Finding site	Structure of epiphysis	false	Inferred relationship	Some	2
Severe achondrolasia with developmental delay and acanthosis nigricans	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Severe achondrolasia with developmental delay and acanthosis nigricans	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	3
Severe achondrolasia with developmental delay and acanthosis nigricans	Finding site	Structure of integumentary system (body structure)	false	Inferred relationship	Some	1
Severe achondrolasia with developmental delay and acanthosis nigricans	Has interpretation	Abnormal	false	Inferred relationship	Some	4
Severe achondrolasia with developmental delay and acanthosis nigricans	Interprets	Keratinization	false	Inferred relationship	Some	4
Severe achondrolasia with developmental delay and acanthosis nigricans	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Severe achondrolasia with developmental delay and acanthosis nigricans	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Severe achondrolasia with developmental delay and acanthosis nigricans	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Severe achondrolasia with developmental delay and acanthosis nigricans	Associated morphology	Hypoplasia	false	Inferred relationship	Some	3
Severe achondrolasia with developmental delay and acanthosis nigricans	Is a	Functional finding	false	Inferred relationship	Some
Severe achondrolasia with developmental delay and acanthosis nigricans	Associated morphology	Dysplasia	false	Inferred relationship	Some	3
Severe achondrolasia with developmental delay and acanthosis nigricans	Finding site	Skeletal system structure	false	Inferred relationship	Some	5
Severe achondrolasia with developmental delay and acanthosis nigricans	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	5
Severe achondrolasia with developmental delay and acanthosis nigricans	Occurrence	Congenital	false	Inferred relationship	Some	5
Severe achondrolasia with developmental delay and acanthosis nigricans	Associated morphology	Hypoplasia	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
2985982011	SADDAN - Severe achondrolasia with developmental delay and acanthosis nigricans	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2986025017	Severe achondrolasia with developmental delay and acanthosis nigricans (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2986056013	SADDAN - dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2986127010	Severe achondrolasia with developmental delay and acanthosis nigricans	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2988868011	SSB - skeleton-skin-brain syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core