723365002: Hypotrichosis and intellectual disability syndrome Lopes type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Hair finding\Disorder of hair\...

\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)

\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)

\Finding of limb structure\Disorder of extremity (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3424253010 Hypotrichosis and intellectual disability syndrome Lopes type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3424254016 Hypotrichosis and intellectual disability syndrome Lopes type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3424255015 Lopes Marques de Faria syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3424256019 Syndrome with characteristics of hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3978121000052115 syndrom med hypotrikos och intellektuell funktionsnedsättning, Lopestyp sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Is a	Congenital hypotrichia	true	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Is a	Syndactyly (disorder)	true	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Finding site	Skin structure	false	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	3
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	3
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Associated morphology	kongenital hypoplasi	false	Inferred relationship	Some	4
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	4
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	2
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
3424253010	Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3424254016	Hypotrichosis and intellectual disability syndrome Lopes type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3424255015	Lopes Marques de Faria syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424256019	Syndrome with characteristics of hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3978121000052115	syndrom med hypotrikos och intellektuell funktionsnedsättning, Lopestyp	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)