771472009: Developmental and speech delay due to SRY-box 5 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Functional finding\Communication disorder\Disorder of language (disorder)\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SOX5 deficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Functional finding\Language finding\Disorder of language (disorder)\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SOX5 deficiency
• \Speech finding\Speech and language finding\...
• \Communication, speech and language finding\Communication disorder\Disorder of language (disorder)\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SOX5 deficiency
• \Language finding\Disorder of language (disorder)\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SOX5 deficiency
• \Disease\Genetic disease\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Disease\Communication disorder\Disorder of language (disorder)\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SOX5 deficiency
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Disease\Developmental disorder (disorder)\Developmental language disorder\Developmental speech disorder\Speech delay\Developmental and speech delay due to SOX5 deficiency
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency
• \Disease\Developmental disorder (disorder)\Developmental delay\Speech delay\Developmental and speech delay due to SOX5 deficiency
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Lamb Shaffer syndrome\Developmental and speech delay due to SOX5 deficiency

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
3706358015	Developmental and speech delay due to SRY-box 5 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706359011	Developmental and speech delay due to SOX5 (SRY-box 5) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706360018	Developmental and speech delay due to SRY-box 5 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706361019	Developmental and speech delay due to SOX5 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706362014	A rare genetic syndromic intellectual disability characterised by mild to severe global developmental delay, intellectual disability and behavioural abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706363016	A rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706358015	Developmental and speech delay due to SRY-box 5 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706359011	Developmental and speech delay due to SOX5 (SRY-box 5) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706360018	Developmental and speech delay due to SRY-box 5 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706361019	Developmental and speech delay due to SOX5 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706362014	A rare genetic syndromic intellectual disability characterised by mild to severe global developmental delay, intellectual disability and behavioural abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706363016	A rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3453371001000116	Entwicklungs- und Sprachverzögerung durch SOX5-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6066741000241116	retard de développement et de la parole dû à un déficit en SRY-box 5 (sex determining region box transcription factor 5)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6066751000241118	retard de développement et de la parole dû à un déficit du 'sex determining region box transcription factor 5'	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6066741000241116	retard de développement et de la parole dû à un déficit en SRY-box 5 (sex determining region box transcription factor 5)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6066751000241118	retard de développement et de la parole dû à un déficit du 'sex determining region box transcription factor 5'	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3453371001000116	Entwicklungs- und Sprachverzögerung durch SOX5-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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