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

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\...

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

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

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

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Hypotrichosis and intellectual disability syndrome Lopes type

\Finding of limb structure\Disorder of extremity\...

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

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

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hypotrichosis and intellectual disability syndrome Lopes type
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Hypotrichosis and intellectual disability syndrome Lopes type
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Hypotrichosis and intellectual disability syndrome Lopes type

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

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

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3424254016 Hypotrichosis and intellectual disability syndrome Lopes type en Synonym Active Initial character case insensitive SNOMED CT core

3424255015 Lopes Marques de Faria syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypotrichosis and intellectual disability syndrome Lopes type	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypotrichosis and intellectual disability syndrome Lopes type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Hypotrichosis and intellectual disability syndrome Lopes type	Occurrence	Congenital	true	Inferred relationship	Some	2
Hypotrichosis and intellectual disability syndrome Lopes type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hypotrichosis and intellectual disability syndrome Lopes type	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Hypotrichosis and intellectual disability syndrome Lopes type	Finding site	Hair structure	true	Inferred relationship	Some	1
Hypotrichosis and intellectual disability syndrome Lopes type	Finding site	Digit structure	true	Inferred relationship	Some	2
Hypotrichosis and intellectual disability syndrome Lopes type	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Hypotrichosis and intellectual disability syndrome Lopes type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Hypotrichosis and intellectual disability syndrome Lopes type	Has interpretation	Impaired	true	Inferred relationship	Some	3
Hypotrichosis and intellectual disability syndrome Lopes type	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Hypotrichosis and intellectual disability syndrome Lopes type	Has interpretation	Impaired	true	Inferred relationship	Some	4
Hypotrichosis and intellectual disability syndrome Lopes type	Is a	Congenital hypotrichia	true	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type	Is a	Intellectual disability	false	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type	Is a	Syndactyly	true	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type	Finding site	Skin structure	false	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	3
Hypotrichosis and intellectual disability syndrome Lopes type	Occurrence	Congenital	false	Inferred relationship	Some	3
Hypotrichosis and intellectual disability syndrome Lopes type	Finding site	Digit structure	false	Inferred relationship	Some	3
Hypotrichosis and intellectual disability syndrome Lopes type	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	4
Hypotrichosis and intellectual disability syndrome Lopes type	Occurrence	Congenital	false	Inferred relationship	Some	4
Hypotrichosis and intellectual disability syndrome Lopes type	Finding site	Hair structure	false	Inferred relationship	Some	4
Hypotrichosis and intellectual disability syndrome Lopes type	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424253010	Hypotrichosis and intellectual disability syndrome Lopes type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3424254016	Hypotrichosis and intellectual disability syndrome Lopes type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3424255015	Lopes Marques de Faria syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core