71988008: Aase syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...

\Hereditary disorder of cellular element of blood\Aase syndrome

\Anemia\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Anemia\Anemia due to decreased red cell production\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome

\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\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\Hereditary disorder of cellular element of blood\Aase syndrome
\Disease\Disorder of cellular component of blood\Anemia\Congenital anemia\Congenital hypoplastic anemia\Aase syndrome
\Disease\Disorder of cellular component of blood\Anemia\Anemia due to decreased red cell production\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Disease\Disorder of body system\Disorder of hematopoietic structure\Bone marrow disorder\Hypoplastic anemia\Congenital hypoplastic anemia\Aase syndrome
\Disease\Disorder of body system\Disorder of hematopoietic structure\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\Aase syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of the hematopoietic system\Congenital hypoplastic anemia\Aase syndrome
\Disease\Congenital disease\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

119626014 Aase syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

812214016 Aase syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

2988828012 Blackfan-Diamond anemia en Synonym Active Entire term case sensitive SNOMED CT core module

2988919012 Blackfan-Diamond anaemia en Synonym Active Entire term case sensitive SNOMED CT core module

4571580016 Aase Smith II syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

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

4571582012 Congenital pure red cell aplasia en Synonym Active Entire term case insensitive SNOMED CT core module

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

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	Existential restriction modifier
Aase syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Aase syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Aase syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier
Aase syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Aase syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Aase syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Aase syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	1
Aase syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Aase syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier	1
Aase syndrome	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier	2
Aase syndrome	Interprets	Measurement of total hemoglobin concentration	true	Inferred relationship	Existential restriction modifier	3
Aase syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	3
Aase syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Aase syndrome	Due to	Decreased erythrocyte production	true	Inferred relationship	Existential restriction modifier	4
Aase syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Aase syndrome	Finding site	Bone marrow structure	true	Inferred relationship	Existential restriction modifier	1
Aase syndrome	Is a	Hereditary disorder of cellular element of blood	true	Inferred relationship	Existential restriction modifier
Aase syndrome	Is a	Congenital hypoplastic anemia	true	Inferred relationship	Existential restriction modifier

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	Active	Entire term case sensitive	SNOMED CT core module
812214016	Aase syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
2988828012	Blackfan-Diamond anemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2988919012	Blackfan-Diamond anaemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4571580016	Aase Smith II syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4571581017	Congenital hypoplastic anaemia Blackfan-Diamond type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4571582012	Congenital pure red cell aplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4571583019	Congenital hypoplastic anemia Blackfan-Diamond type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module