723364003: Hypotrichosis with juvenile macular degeneration syndrome (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 with juvenile macular degeneration syndrome
• \Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Finding of head region\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\...
• \Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\...
• \Disorder of macula of retina\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Eye / vision finding\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hypotrichosis with juvenile macular degeneration syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hypotrichosis with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hypotrichosis with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \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 with juvenile macular degeneration syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Hypotrichosis with juvenile macular degeneration syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hypotrichosis with juvenile macular degeneration syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424248017	Hypotrichosis with juvenile macular degeneration syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424249013	Hypotrichosis with juvenile macular degeneration syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424250013	HJMD (hypotrichosis, juvenile macular degeneration) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424252017	A very rare syndrome that presents with short and sparse scalp hair from birth or the first months of life with no subsequent growth during life. During the first to third decades of life, visual acuity decreases because of progressive macular degeneration, leading in many cases to blindness between the second and fourth decades of life. The hair phenotype does not improve significantly with age, even though diffuse alopecia in infancy can evolve towards short and sparse hair in puberty. Caused by mutations in the CDH3 gene (16q22.1), encoding P-cadherin. P-cadherin is part of adherens junctions in various epithelia including the hair follicular epithelium. Inherited in an autosomal recessive pattern.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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