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774203000: Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3728333012 Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728334018 Intellectual disability, severe speech delay, mild dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728337013 A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioral problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728338015 A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioural problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728333012 Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728334018 Intellectual disability, severe speech delay, mild dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728337013 A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioral problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728338015 A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioural problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3427271001000116 Intelligenzminderung-ausgeprägte Sprachverzögerung-milde Dysmorphien-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
886961000172114 syndrome de déficience intellectuelle-trouble sévère du langage-dysmorphie modérée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
924621000172118 syndrome FOXP1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
886961000172114 syndrome de déficience intellectuelle-trouble sévère du langage-dysmorphie modérée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
924621000172118 syndrome FOXP1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427271001000116 Intelligenzminderung-ausgeprägte Sprachverzögerung-milde Dysmorphien-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability, severe speech delay, mild dysmorphism syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, severe speech delay, mild dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability, severe speech delay, mild dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability, severe speech delay, mild dysmorphism syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability, severe speech delay, mild dysmorphism syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, severe speech delay, mild dysmorphism syndrome Is a Global developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, severe speech delay, mild dysmorphism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability, severe speech delay, mild dysmorphism syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intellectual disability, severe speech delay, mild dysmorphism syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intellectual disability, severe speech delay, mild dysmorphism syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
Intellectual disability, severe speech delay, mild dysmorphism syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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