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 (disorder)\Hypotrichosis (disorder)\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)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \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 of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Hypotrichosis and intellectual disability syndrome Lopes type
• \Finding of limb structure (finding)\Disorder of limb\...
• \Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type
• \Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\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)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \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
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\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)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Hypotrichosis and intellectual disability syndrome Lopes type
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Hypotrichosis and intellectual disability syndrome Lopes type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Hypotrichosis and intellectual disability syndrome Lopes type
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\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)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \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
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\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 (disorder)\Hypotrichosis (disorder)\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)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \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
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\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 foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\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)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth (disorder)\Hypotrichosis (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type
• \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 (disorder)\Hypotrichosis (disorder)\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \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
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly (disorder)\Hypotrichosis and intellectual disability syndrome Lopes type
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis and intellectual disability syndrome Lopes type

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
5403020010	A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403021014	A rare ectodermal dysplasia syndrome characterised by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
5403020010	A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403021014	A rare ectodermal dysplasia syndrome characterised by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3409831001000119	Hypotrichose mit Intelligenzminderung Typ Lopes	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286121000241115	syndrome d'hypotrichose et de déficience intellectuelle de type Lopes	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286131000241118	syndrome de Lopes-Marques de Faria	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286121000241115	syndrome d'hypotrichose et de déficience intellectuelle de type Lopes	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286131000241118	syndrome de Lopes-Marques de Faria	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3409831001000119	Hypotrichose mit Intelligenzminderung Typ Lopes	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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