719944006: Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Deformity\Congenital deformity\Congenital deformity of soft tissue\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Deformity\Congenital deformity\Congenital deformity of face\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

\Skin AND/OR mucosa finding\Skin finding\...

\Hair finding\Disorder of hair\...

\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\General finding of soft tissue\Disorder of soft tissue\Congenital deformity of soft tissue\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Deformity of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\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\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\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\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of soft tissue\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of face\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of soft tissue\Congenital deformity of soft tissue\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism 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\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of soft tissue\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of face\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3318544012 Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3318545013 Trichomegaly with retina pigmentary degeneration and dwarfism syndrome en Synonym Active Case insensitive SNOMED CT core

3318546014 Oliver McFarlane syndrome en Synonym Active Case sensitive SNOMED CT core

3318547017 This syndrome has characteristics of growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Finding site	Entire eyelashes	true	Inferred relationship	Some	2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Associated morphology	Abnormally long growth	true	Inferred relationship	Some	2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Congenital anomaly of retina	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Associated morphology	Pigmentary degeneration	true	Inferred relationship	Some	3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Congenital deformity of face	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Disorder of hair growth	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Congenital deformity of soft tissue	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Congenital anomaly of hair	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Congenital anomaly of eyelid	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Degeneration of retina	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	Deformity of eyelid	true	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	5
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Associated morphology	Pigmentary degeneration	false	Inferred relationship	Some	6
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Finding site	Retinal structure	false	Inferred relationship	Some	6
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	7
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Finding site	Entire eyelashes	false	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318544012	Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3318545013	Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318546014	Oliver McFarlane syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318547017	This syndrome has characteristics of growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core