782949007: Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome

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

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Café au lait spot\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3756900019 Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3756901015 FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3756902010 Friedman Goodman syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3756903017 Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Is a	Café au lait spot	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Is a	Retinitis pigmentosa	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Is a	Genetic disorder of skin pigmentation	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	1
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	3
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Associated morphology	Pigment alteration	true	Inferred relationship	Existential restriction modifier	3
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier

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
3756900019	Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3756901015	FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3756902010	Friedman Goodman syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3756903017	Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module