1172685001: Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

\Finding of limb structure\Edema of extremity\Lymphedema of limb\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Finding of limb structure\Disorder of extremity\Lymphedema of limb\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

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

\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

\Edema\Edema of extremity\Lymphedema of limb\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Edema\Disorder characterized by edema\Lymphedema\Lymphedema of limb\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Functional finding\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of extremity\Lymphedema of limb\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Disorder characterized by edema\Lymphedema\Lymphedema of limb\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Congenital disease\Congenital thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Developmental disorder\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4635272012 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4635273019 Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4635274013 Takenouchi Kosaki syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4635275014 Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	Megakaryocytic thrombocytopenia	true	Inferred relationship	Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	Hereditary lymphedema	true	Inferred relationship	Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	Hereditary thrombocytopenic disorder	true	Inferred relationship	Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	Congenital thrombocytopenia	true	Inferred relationship	Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Associated morphology	Lymphatic edema	false	Inferred relationship	Existential restriction modifier	5
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier	3
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier	4
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Finding site	Body system structure	true	Inferred relationship	Existential restriction modifier	6
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	2
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	2
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	7
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	8
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	8
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	Associated morphology	Lymphatic edema	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4635272012	Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4635273019	Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4635274013	Takenouchi Kosaki syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4635275014	Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module