722375007: Bamforth Lazarus syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Hair finding\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Bamforth Lazarus syndrome
• \Head finding (finding)\Finding of head region\Orofacial cleft\Cleft palate\Bamforth Lazarus syndrome
• \Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Bamforth Lazarus syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
• \Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism (disorder)\Bamforth Lazarus syndrome
• \Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
• \Finding of neck region\Disease of neck\Congenital anomaly of neck\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
• \Finding of neck region\Disease of neck\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism (disorder)\Bamforth Lazarus syndrome
• \Finding of neck region\Disease of neck\Disorder of thyroid gland\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Bamforth Lazarus syndrome
• \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\Bamforth Lazarus syndrome
• \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\Bamforth Lazarus syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Bamforth Lazarus syndrome
• \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\Bamforth Lazarus syndrome
• \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\Bamforth Lazarus syndrome
• \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\Bamforth Lazarus syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Bamforth Lazarus syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Bamforth Lazarus syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Bamforth Lazarus syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Bamforth Lazarus syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Bamforth Lazarus syndrome
• \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\Bamforth Lazarus syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Bamforth Lazarus syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Bamforth Lazarus syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of neck\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Bamforth Lazarus syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hypothyroidism (disorder)\Bamforth Lazarus syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Bamforth Lazarus syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Bamforth Lazarus syndrome
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Bamforth Lazarus syndrome
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism (disorder)\Bamforth Lazarus syndrome
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of thyroid gland\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Congenital anomaly of endocrine gland\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Bamforth Lazarus syndrome
• \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\Bamforth Lazarus syndrome
• \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\Bamforth Lazarus syndrome
• \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\Bamforth Lazarus syndrome
• \Disease\Disease of neck\Congenital anomaly of neck\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
• \Disease\Disease of neck\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism (disorder)\Bamforth Lazarus syndrome
• \Disease\Disease of neck\Disorder of thyroid gland\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
• \Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Bamforth Lazarus syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
• \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\Bamforth Lazarus syndrome
• \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\Bamforth Lazarus syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Bamforth Lazarus syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Bamforth Lazarus syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Bamforth Lazarus syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of neck\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Bamforth Lazarus syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331735014	Bamforth Lazarus syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331736010	Bamforth Lazarus syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331737018	Athyroidal hypothyroidism with spiky hair and cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331738011	Hypothyroidism and cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402890011	A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402891010	A very rare syndrome of congenital hypothyroidism characterised by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331735014	Bamforth Lazarus syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331736010	Bamforth Lazarus syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331737018	Athyroidal hypothyroidism with spiky hair and cleft palate syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331737018	Athyroidal hypothyroidism with spiky hair and cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331738011	Hypothyroidism and cleft palate syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331738011	Hypothyroidism and cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331739015	A very rare syndrome of congenital hypothyroidism with characteristics of thyroid dysgenesis, cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Only 8 patients from 6 families have been reported to date. Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice and umbilical hernia. All newborns have a cleft palate and spiky hair. The syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1 gene (9q22), encoding thyroid transcription factor 2 (TTF-2). TTF-2 is expressed in the thyroid gland (as well as elsewhere like the tongue, epiglottis and palate) and is thought to play a crucial role in thyroid morphogenesis. The disease is inherited autosomal recessively.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402890011	A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402891010	A very rare syndrome of congenital hypothyroidism characterised by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3430401001000110	Bamforth-Lazarus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5757271000241111	syndrome d'hypothyroïdie par athyréose, cheveux hérissés et fente palatine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5757281000241113	syndrome de Bamforth-Lazarus	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5757271000241111	syndrome d'hypothyroïdie par athyréose, cheveux hérissés et fente palatine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5757281000241113	syndrome de Bamforth-Lazarus	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430401001000110	Bamforth-Lazarus-Syndrom	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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