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71988008: Aase syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Aase syndrome

\Anaemia\Congenital anaemia\Congenital hypoplastic anaemia\Aase syndrome
\Anaemia\Anaemia due to decreased red cell production\Hypoplastic anaemia\Congenital hypoplastic anaemia\Aase syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Aase syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\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\Blood disease\Hereditary disorder of cellular element of blood\Aase syndrome
\Disease\Blood disease\Anaemia\Congenital anaemia\Congenital hypoplastic anaemia\Aase syndrome
\Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Hypoplastic anaemia\Congenital hypoplastic anaemia\Aase syndrome
\Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Hypoplastic anaemia\Congenital hypoplastic anaemia\Aase syndrome
\Disease\Disorder of body system\Disorder of haematopoietic structure\Congenital anomaly of the haematopoietic system\Congenital hypoplastic anaemia\Aase syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Aase syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of the haematopoietic system\Congenital hypoplastic anaemia\Aase syndrome
\Disease\Congenital disease\Congenital anaemia\Congenital hypoplastic anaemia\Aase syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Aase syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of the haematopoietic system\Congenital hypoplastic anaemia\Aase syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

119626014 Aase syndrome en Synonym Active Case sensitive SNOMED CT core

2988828012 Blackfan-Diamond anemia en Synonym Active Case sensitive SNOMED CT core

2988919012 Blackfan-Diamond anaemia en Synonym Active Case sensitive SNOMED CT core

4571580016 Aase Smith II syndrome en Synonym Active Case sensitive SNOMED CT core

4571581017 Congenital hypoplastic anaemia Blackfan-Diamond type en Synonym Active Initial character case insensitive SNOMED CT core

4571582012 Congenital pure red cell aplasia en Synonym Active Case insensitive SNOMED CT core

4571583019 Congenital hypoplastic anemia Blackfan-Diamond type en Synonym Active Initial character case insensitive SNOMED CT core

812214016 Aase syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aase syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Aase syndrome	Associated morphology	Morphologically abnormal structure	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	true	Inferred relationship	Some
Aase syndrome	Is a	Congenital hypoplastic anaemia	true	Inferred relationship	Some
Aase syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Aase syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	false	Inferred relationship	Some
Aase syndrome	Is a	Hereditary neoplastic syndrome	true	Inferred relationship	Some
Aase syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Aase syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Aase syndrome	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
119626014	Aase syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
2988828012	Blackfan-Diamond anemia	en	Synonym	Active	Case sensitive	SNOMED CT core
2988919012	Blackfan-Diamond anaemia	en	Synonym	Active	Case sensitive	SNOMED CT core
4571580016	Aase Smith II syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4571581017	Congenital hypoplastic anaemia Blackfan-Diamond type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4571582012	Congenital pure red cell aplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
4571583019	Congenital hypoplastic anemia Blackfan-Diamond type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
812214016	Aase syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core