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71988008: Aase syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Aase syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Aase syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aase syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Aase syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Aase syndrome
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to decreased red cell production\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the hematopoietic system\Congenital hypoplastic anemia\Aase syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Aase syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of the hematopoietic system\Congenital hypoplastic anemia\Aase syndrome
\Disease\Congenital disease (disorder)\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Aase syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of the hematopoietic system\Congenital hypoplastic anemia\Aase syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aase syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	false	Inferred relationship	Some
Aase syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Aase syndrome	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Aase syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Aase syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Aase syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Aase syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Aase syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Aase syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Aase syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Aase syndrome	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Aase syndrome	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	3
Aase syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Aase syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Aase syndrome	Due to	Decreased erythrocyte production	true	Inferred relationship	Some	4
Aase syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Aase syndrome	Finding site	Bone marrow structure	true	Inferred relationship	Some	1
Aase syndrome	Is a	Hereditary disorder of cellular element of blood (disorder)	true	Inferred relationship	Some
Aase syndrome	Is a	Congenital hypoplastic anemia	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
119626014	Aase syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
812214016	Aase syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2988828012	Blackfan-Diamond anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2988919012	Blackfan-Diamond anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4571580016	Aase Smith II syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4571581017	Congenital hypoplastic anaemia Blackfan-Diamond type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4571582012	Congenital pure red cell aplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4571583019	Congenital hypoplastic anemia Blackfan-Diamond type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2513521000052114	Aases syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)