1222708006: Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay 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\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5048609012 Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5048610019 Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5048611015 TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Is a	Congenital heart disease	true	Inferred relationship	Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Is a	Hypertrichosis	true	Inferred relationship	Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier	1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Finding site	Hair structure	true	Inferred relationship	Existential restriction modifier	3
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	Associated morphology	Growth alteration	true	Inferred relationship	Existential restriction modifier	3

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
5048609012	Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5048610019	Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5048611015	TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module